Miopatía nemalínica pediátrica: desafíos diagnósticos, variabilidad fenotípica y avances en el manejo clínico. Revisión de casos y series de casos

Abstract

Pediatric nemaline myopathy is the most common non-dystrophic congenital myopathy, yet its clinical and genetic expression varies widely across patients. This study synthesizes the published evidence on clinical manifestations, genetic alterations, and mortality in pediatric patients with this diagnosis, through a systematic review of case reports and case series conducted according to the PRISMA 2020 guidelines, searching PubMed, Scopus, Web of Science, Cochrane Library, and Dialnet between 2010 and 2022. Ten studies met the inclusion criteria, contributing a total of 63 patients. ACTA1 (45.7%) and NEB (40.0%) accounted for most of the mutations identified. Clinically, axial and proximal muscle weakness (24.75%) and neonatal hypotonia (23.76%) predominated. Five patients died (7.9%), mainly from respiratory failure. These findings confirm a markedly heterogeneous disease, with persistent gaps in genetic characterization that support the need for multicenter studies with standardized methodology.